Lamellar ichthyosis

Disease Term Disease ID Gene Symbol Classification References Source
Lamellar ichthyosis 313 ABCA12 Causal Pathogenic evidence from ClinVar - ClinVar
ALOX12B Causal Pathogenic evidence from ClinVar - ClinVar
ALOXE3 Causal Pathogenic evidence from ClinVar - ClinVar
CYP4F22 Causal Pathogenic evidence from ClinVar - ClinVar
NIPAL4 Causal Pathogenic evidence from ClinVar - ClinVar
SDR9C7 Causal Pathogenic evidence from ClinVar - ClinVar
TGM1 Causal Pathogenic evidence from ClinVar - ClinVar
LIPN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SULT2B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Lamellar ichthyosis, type 2 C1832550 ABCA12 Causal Pathogenic evidence from ClinVar 12915478, 17508018, 18284401, 19262603, 22257947 ClinVar
ICHTHYOSIS, LAMELLAR, 5 C1847849 ALOXE3 Causal Pathogenic evidence from ClinVar - ClinVar